Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.

Abstract

Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual presentation of type IV Ehlers-Danlos syndrome in a 16 year old boy with an anterior myocardial infarction resulting from dissection of the left anterior descending coronary artery is reported here. A clinical diagnosis of type IV Ehlers-Danlos syndrome was made subsequently and confirmed by the reduced production, impaired secretion, and abnormally slow electrophoretic migration of type III collagen, indicating an underlying mutation in the COL3A1 gene. This patient represents the first case of type IV Ehlers-Danlos syndrome with symptomatic coronary artery dissection.

A case of spontaneous coronary artery dissection presenting with acute anterior wall myocardial infarction in a young adult male – an increasingly recognized rare disease

“…In most cases, a predisposing arterial disease association or cause is identified; however, up to 20 percent of cases are labelled as idiopathic. Potential predisposing factors include fibromuscular dysplasia (FMD), postpartum status, multiparty, connective tissue disorders, and hormonal therapy [6–8,10]. Precipitating stressors such as intense exercise or emotional stress, labour and delivery, intense Valsalva-type activities, or recreational drug uses were reported as a provoking factor of the acute coronary event in over 50 percent of cases in a contemporary series [6].…”

An unusual case presentation of spontaneous coronary artery dissection

“…Apart from the pregnancy, SCAD has also been described in association with Ehler-Danlos syndrome [8], Marfan's syndrome, Kawasaki's disease, systemic lupus erythematosis [9], hypereosinophilic syndrome, fibro-muscular dysplasia, hypersensitivity angiitis, sarcoidosis, as an extension of aortic dissection, in the setting of atherosclerotic disease, blunt trauma [10], mitral stenosis, and cocaine abuse [11]. There are some case reports associated with exercise, oral contraceptives [12] and auto-immune thyroiditis.…”

Spontaneous coronary artery dissection: current insights and therapy

“…In these connective tissue disorders a medial degeneration of the coronary arteries is thought to lead to weakness of the arterial wall and increased susceptibility to spontaneous dissections. 15,16 An association between SCAD and systemic lupus erythematosus (SLE) has also been reported. 17,18 In this disease a general vasculitis is considered to be the pathological mechanism leading to chronic inflammation of the vessels and susceptibility to spontaneous dissections.…”